Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency Medication

Updated: Jan 11, 2019
  • Author: Anna V Blenda, PhD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Medication

Medication Summary

Try carnitine supplementation in patients with evident hypocarnitinemia and continue if symptoms improve; however, start carnitine supplementation with caution during acute fulminant symptoms because of the potential risk of cardiac arrhythmias.

Several novel therapies [40] are currently under development, as follows:

  • Ketone body replacement therapy has shown a positive effect on numerous LCHADD symptoms, including motor development, liver size, and leukodystrophy.
  • Triheptanoin improves biochemical abnormalities, cardiomyopathy, and hypoglycemia in patients with LCHAD deficiency.
  • Other potential therapies include gene therapy and bezafibrates, the latter of which promotes transcription of fatty acid oxidation genes.
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Dietary supplements

Class Summary

L-carnitine at high doses corrects the metabolic abnormalities and hypocarnitinemia present in cases of LCHAD deficiency. It may be important for the conjugation and excretion of fatty acids, for the enhancement of the excretion of toxic metabolites, and to generate free CoA; however, use with extreme caution during acute metabolic crises.

Levocarnitine (Carnitor)

An amino acid derivative synthesized from methionine and lysine, required in energy metabolism. Can promote excretion of excess fatty acids in patients with defects in fatty acid metabolism or specific organic acidopathies, which bioaccumulate acyl CoA esters. Normal levels occur in liver, and mild level increases occur in skeletal muscle.

High doses are able to restore the level of free carnitine in plasma to normal, and many patients improve with this therapy; however, the concentration of long-chain acyl-carnitines increases, which can be detrimental and cause serious cardiac arrhythmias in fulminant crises.

Use in long-chain fatty acid oxidation disorders (eg, LCHAD deficiency, MTP deficiency) is a matter of continued debate, mainly during acute fulminant crises when it enhances the formation of long-chain acylcarnitines, which may cause ventricular arrhythmogenesis.

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